Varaico: Literature-Extracted Genetic Variants

ACACA

1,730 papers

RefSeq Summary

Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fat...

Pfam Domains

Biotin_carb_Naa 117–237UCSCBiotin carboxylase, N-terminal domain

CPSase_L_D2aa 272–473UCSCCarbamoyl-phosphate synthase L chain, ATP binding domain

Biotin_carb_Caa 507–615UCSCBiotin carboxylase C-terminal domain

ACCA_BTaa 627–746UCSCAcetyl-CoA carboxylase, BT domain

Biotin_lipoylaa 752–818UCSCBiotin-requiring enzyme

ACC_centralaa 819–1569UCSCAcetyl-CoA carboxylase, central region

Gene Aliases

HGNC Name

acetyl-CoA carboxylase alpha

HGNC Previous Symbols

ACAC; ACC

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_198834.3

p.H33Q

c.99T>A

Surrounding Variants

1 paper

NM_198834.3

p.A32_H33delFs

c.95_98del4

1 paper

NM_198834.3

p.F34I

c.100T>A

1 paper

NM_198834.3

p.A32_H33del2

c.94_98del6

1 paper

NM_198834.3

p.H33L

c.98A>T

1 paper

NM_198834.3

p.H33Y

c.97C>T

2 papers

NM_198834.3

p.F34F

c.102T>C

1 paper

NM_198834.3

p.A32V

c.95C>T

1 paper

NM_198834.3

p.G35A

c.104G>C

1 paper

NM_198834.3

p.A32P

c.94G>C

1 paper

NM_198834.3

p.G35Fs

c.104delinsTCCFs

1 paper

NM_198834.3

p.A32T

c.94G>A

1 paper

NM_198834.3

p.H33_G35Fs

c.98_104delinsTCCFs